نتایج جستجو برای: bscl2 gene
تعداد نتایج: 1141398 فیلتر نتایج به سال:
Background: Progressive encephalopathy with or without lipodystrophy is a rare autosomal recessive childhood-onset seipin-associated neurodegenerative syndrome, leading to developmental regression of motor and cognitive skills. In this study, we introduce a patient with developmental regression and autism. The causative mutation was found by exome sequencing. Methods: The proband showed a gener...
Berardinelli-Seip congenital lipodystrophy (BSCL) is a heterogeneous genetic disease characterized by near absence of adipose tissue and severe insulin resistance. We have previously identified mutations in the seipin gene in a subset of our patients' cohort. Recently, disease-causing mutations in AGPAT2 have been reported in BSCL patients. In this study, we have performed mutation screening in...
We evaluated dual-echo Dixon in-phase and out-of-phase (IP-OP), chemical shift imaging (CSI), and (1)H MRS (hydrogen MR spectroscopy) in estimating fat content (FC) in phantoms and in livers of mice. Phantoms were made according to the volume percentage of fat ranging from 0% to 100%. The three MR methods were performed to measure FC in phantoms and in livers of obese leptin-deficient (ob/ob), ...
Obesity is characterized by accumulation of excess body fat, while lipodystrophy is characterized by loss or absence of body fat. Despite their opposite phenotypes, these two conditions both cause ectopic lipid storage in non-adipose tissues, leading to lipotoxicity, which has health-threatening consequences. The exact mechanisms underlying ectopic lipid storage remain elusive. Here we report t...
Seipin regulates lipid homeostasis by preventing lipid droplet (LD) formation in non-adipocytes but promoting it in developing adipocytes. Here, we report that seipin interacts with 14-3-3β through its N- and C-termini. Expression of 14-3-3β is upregulated during adipogenesis, and its deletion results in defective adipogenesis without affecting key adipogenic transcription factors. We further i...
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